Article
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.
Annals of the New York Academy of Sciences - 1 Sept 2003
Engel Andrew G, Ohno Kinji, Shen Xin-Ming, Sine Steven M
Abstract excerpt
Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, synaptic, and postsynaptic proteins. The presynaptic CMS are associated with defects that curtail the evoked release of acetylcholine (ACh) quanta or ACh resynthesis. Defects in ACh resynthesis have now been traced to mutations in choline acetyltransferase. A synaptic CMS is caused by mutations in the collagenic tail subunit (ColQ) of the...
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